Comorbidities of obesity in school children: a cross-sectional study in the PIAMA birth cohort

Background  

There is ample evidence that childhood overweight is associated with increased risk of chronic disease in adulthood. The aim of this study was to investigate associations between childhood overweight and common childhood health problems.     

A cost minimisation analysis in teledermatology: model-based approach

Background  

Although store-and-forward teledermatology is increasingly becoming popular, evidence on its effects on efficiency and costs is lacking. The aim of this study, performed in addition to a clustered randomised trial, was to investigate to what extent and under which conditions store-and-forward teledermatology can reduce costs from a societal perspective.     

Prenatal diagnosis of low level trisomy 15 mosaicism: review of the literature

Low level chromosome mosaicism found at amniocentesis is problematic for clinicians and patients. We report prenatal diagnosis of a fetus with a rare karyotype of 47.XX, + 15/46, XX. Second trimester amniocentesis was performed for advanced maternal age. Fetal ultrasound revealed a hypoplastic right ventricle and intrauterine growth retardation (IUGR). The rest of the fetal anatomy was within normal limits. A mosaic karyotype of 47.XX, + 15/46, XX was observed. The couple interrupted the pregnancy at 19 weeks by dilation and suction evacuation. Careful evaluation of multiple pieces of fetal parts and placenta revealed one abnormal finding: a single umbilical artery. Cytogenetic metaphase and fluorescent in situ hybridization (FISH) interphase analyses of cells from fetal lung, heart, placenta, and skin revealed the presence of the trisomic line in all tissues. Molecular analysis demonstrated that the origin of the extra chromosome 15 was maternal, the error most likely occurred in meiosis I and the diploid line was of biparental inheritance. This case report discusses the associated findings in this fetus and reviews the literature describing other cases of mosaic trisomy 15.     

The presenting features of mucopolysaccharidosis type IH (Hurler syndrome)

The presenting features of 39 patients with mucopolysaccharidosis (MPS) type IH are described. The mean age at diagnosis was approximately 9 months and it is difficult to see how this can be reduced without consideration of newborn screening. An earlier age at diagnosis is likely to lead to better results following therapy such as bone marrow transplantation. Clinical features which should arouse suspicion of MPS IH include frequent ENT surgery and recurrent herniae. Clinical vigilance is needed for early diagnosis     

Multilocular cystic nephroma: a radiographic-pathologic correlation of 58 patients

Clinical radiographic, and pathologic findings of multilocular cystic nephroma (MLCN) in 58 patients are presented. The lesion that affects predominantly boys in childhood and women in adulthood is usually solitary but rarely can be multiple, and it commonly occurs as an asymptomatic mass, occasionally with hematuria. Tumors may grow slowly over years or rapidly within months. A mass that is usually identified on plain radiographs occasionally has curvilinear calcification. Excretory urography and retrograde pyelography are helpful when pelvic herniation of the tumor is recognized, or when septae are noted with total body opacification. Angiography showed an avascular mass (six lesions), a hypovascular mass (14 lesions), or a hypervascular mass three lesions). Ultrasonography is helpful when multiple circumscribed sonolucent areas are identified. Similarly, a multilocular mass with septae is usually identified by computed tomography (six of seven cases). Our findings and a review of the literature indicate that this lesion is a neoplasm that can be strongly suspected preoperatively if pelvic herniation or a multilocular pattern is noted on imaging studies.